ACTB Mutations Analysis and Genotype–Phenotype Correlation in Becker’s Nevus

Becker’s nevus (BN) is a cutaneous hamartoma which is characterized by circumscribed hyperpigmentation with hypertrichosis. Recent studies have revealed that BN patients harbored postzygotic ACTB mutations, which were restricted to arrector pili muscle lineage. We screened for ACTB mutations in 20 Chinese patients with BN and found that recurrent mutations (c.C439A or c.C439T) in ACTB were detected in the majority of BN patients. However, more than 20% of the patients were negative for ACTB mutations, suggesting a possible genetic heterogeneity in Becker’s nevus. Interestingly, these mutations were also detected in dermal tissues outside the arrector pili muscle. We further performed genotype–phenotype correlation analysis, which revealed that lesions above the waistline, including the trunk above the anterior superior spine level, upper limbs and face, or covering more than 1% BSA were more likely to be positive for ACTB mutations. Altogether, our results provide further evidence of postzygotic ACTB mutations in BN patients and suggest a possible genotype–phenotype correlation of BN.

Becker’s nevus syndrome: a case report

Background Becker’s nevus syndrome is a syndrome characterized by the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. The nevus usually consists of a circumscribed, unilateral, irregularly shaped hyperpigmented macule, commonly occurring around the anterior upper trunk, with/without hypertrichosis and/or acneiform lesions. This rare syndrome has not been reported in our locality to the best of our knowledge. Case presentation We report the case of a 15-year-old Igbo female patient who presented to our pediatric endocrinology clinic, University of Nigeria Teaching Hospital, Enugu, with complaints of asymmetry of the breasts and hyperpigmented macules on the side. Based on her symptoms, diagnosis of Becker’s nevus syndrome was made. The diagnosis of Becker’s nevus syndrome is mostly clinical, based on the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. In our patient, there was a Becker’s nevus with ipsilateral breast hypoplasia. This syndrome, belonging to the class of epidermal nevus syndromes, is very rare, and is usually benign. She was placed on spironolactone tablets 50 mg daily, which have been associated with an improvement in the size of the hypoplastic breast, and her fears were allayed. Conclusion This syndrome has not been reported in our locality to the best of our knowledge and, therefore, has a propensity for misdiagnosis by clinicians because of its rarity. We therefore report this to create awareness among clinicians regarding this condition that is associated with much psychosocial trauma among patients, and that can be easily managed with oral spironolactone.

Cutaneous Nevi in Down Syndrome Patients: Prospective study

Background: Down Syndrome (DS) has been described in association with various dermatoses,however, there is scanty information in the literature regarding the frequency of cutaneous nevi among Down syndrome patients. The objective of the study: To define the frequency of different cutaneousnevi in DS patients, andto precise their different phenotypes. Patients and methods: we prospectively examined 180 Down syndrome patients. All patients underwent full body skin examination noting the type, number, size, and distribution of different nevi. Results: Different types of nevi were noted among Down syndrome patients; café au lait macules, melanocytic nevocellular nevi, and Mongolian spot were the most frequent ones. Juvenile elastoma, Becker’s nevus, nevus spilus, labial melanocytic macule, and capillary vascular malformation were also seen. Conclusion: Various types of cutaneous nevi not previously described in Down syndrome, was observed in our patients such as Becker’s nevus, nevus spilus and Juvenile elastoma.

Comprehensive Treatment of a Skeletal Class III Growing Patient with Alveolar Bone Hypertrophy in the Anterior Mandible Associated with Becker’s Nevus Syndrome: A Case Report

Becker’s nevus is a relatively common skin lesion with brown hyperpigmentation and hypertrichosis. It may be expressed simultaneously with other cutaneous, muscular, or skeletal defects, such as hypoplasia of the breast or scoliosis, for which the term “Becker’s nevus syndrome” has been proposed. An 8-year-old boy presented with a Becker’s nevus on the right cheek, chin, and upper neck with alveolar bone hypertrophy in the anterior mandible, which led to an anterior crossbite and severe canting of the mandibular anterior teeth. Through orthopedic treatment using a face mask, the anteroposterior jaw relationship was improved. In phase 2 treatment, we corrected the canting of the mandibular anterior teeth with a segmental intrusion of the mandibular anterior right teeth into the hypertrophic alveolar bone area. The facial profile was improved along with acceptable occlusion, and the treatment result was stable at 1 year after the end of the treatment, without any periodontal attachment loss, root resorption of mandibular anterior teeth, or increase in the size of the hypertrophic region. This case report describes the successful comprehensive treatment of a growing patient with skeletal Class III malocclusion and multiple characteristics of Becker’s nevus syndrome.